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Updated: Jun 13, 2025
Methodology for Accurate Detection of Mitochondrial DNA Methylation
Published on: May 20, 2018
Concurrent detection of the mitochondrial DNA copy number and the +35G/C polymorphism in the mitochondrial
Sara A El Derbaly1, Ola A Mohamed1, Naglaa M Ghanaym1
1Medical Biochemistry and Molecular Biology Department, Faculty of Medicine, Menoufia University, Egypt.
Background And Aim:
Endometriosis is a chronic gynecological inflammatory disease. The mitochondrial DNA copy number (mtDNA CN) and mitochondrial transcription factor A (TFAM) are known to contribute to human pathologies and cancer. Therefore, this study aims to reveal the association of mtDNA CN and TFAM+35G/C (rs1937) polymorphism with the risk of endometriosis in Egyptian females.
Materials And Methods:
This case-control study involved 160 Egyptian females divided into two groups: 80 endometriosis cases and 80 controls. The mtDNA CN was quantified using a real-time quantitative PCR (qPCR), and the TFAM +35G/C SNP (rs1937) was genotyped using the TaqMan allelic discrimination assay technique.
Results:
The mtDNA CN was markedly decreased in endometriosis cases compared to controls (P < 0. 001). TFAM rs1937 genotypes and allele distributions were all in Hardy-Weinberg equilibrium. The GC genotype and the 'C' allele frequency (P = 0.015 and P = 0.017, respectively) were substantially greater in endometriosis cases.
Conclusion:
Decreased mtDNA CN and the GC genotype of TFAM +35G/C polymorphism were significantly associated with the risk of endometriosis in Egyptian females.
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